Rapid detection of hot spot mutations of FGFR3 gene with PCR-high resolution melting assay / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 494-498, 2017.
Artículo
en Chino
| WPRIM
| ID: wpr-335097
ABSTRACT
<p><b>OBJECTIVE</b>To identify the causative mutations in five individuals affected with dyschondroplasia and develop an efficient procedure for detecting hot spot mutations of the FGFR3 gene.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood samples with a standard phenol/chloroform method. PCR-Sanger sequencing was used to analyze the causative mutations in the five probands. PCR-high resolution melting (HRM) was developed to detect the identified mutations.</p><p><b>RESULTS</b>A c.1138G>A mutation in exon 8 was found in 4 probands, while a c.1620C>G mutation was found in exon 11 of proband 5 whom had a mild phenotype. All patients were successfully distinguished from healthy controls with the PCR-HRM method. The results of HRM analysis were highly consistent with that of Sanger sequencing.</p><p><b>CONCLUSION</b>The Gly380Arg and Asn540Lys are hot spot mutations of the FGFR3 gene among patients with ACH/HCH. PCR-HRM analysis is more efficient for detecting hot spot mutations of the FGFR3 gene.</p>
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Análisis Mutacional de ADN
/
Reacción en Cadena de la Polimerasa
/
Temperatura de Transición
/
Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos
/
Genética
/
Métodos
/
Mutación
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Femenino
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2017
Tipo del documento:
Artículo
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